Variant report

Variant	rs12231594
Chromosome Location	chr12:122447561-122447562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10840639	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840640	0.96[ASN][1000 genomes]
rs10840641	0.88[ASN][1000 genomes]
rs11043249	0.84[ASN][1000 genomes]
rs11043252	0.82[ASN][1000 genomes]
rs11043253	0.84[ASN][1000 genomes]
rs11043254	0.84[ASN][1000 genomes]
rs11043281	0.98[ASN][1000 genomes]
rs11043287	0.98[ASN][1000 genomes]
rs2177330	0.93[ASN][1000 genomes]
rs3741582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58504997	0.84[ASN][1000 genomes]
rs59325626	0.84[ASN][1000 genomes]
rs6486785	0.84[ASN][1000 genomes]
rs7294458	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298520	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7969138	0.89[ASN][1000 genomes]
rs830127	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
2	chr12:122443000-122449000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
5	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
6	chr12:122443600-122448400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:122444600-122458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:122444800-122449200	Enhancers	Fetal Thymus	thymus
9	chr12:122445000-122447800	Enhancers	Thymus	Thymus
10	chr12:122445000-122448600	Enhancers	Primary B cells from cord blood	blood
11	chr12:122446000-122451400	Weak transcription	Dnd41	blood
12	chr12:122446600-122448200	Enhancers	GM12878-XiMat	blood
13	chr12:122447000-122448200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:122447200-122448200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:122447200-122448200	Enhancers	Spleen	Spleen
16	chr12:122447400-122447800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:122447400-122448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:122447400-122448600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:122447400-122449800	Weak transcription	HSMMtube	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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